Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency

Mitochondrion. 2016 Nov:31:84-88. doi: 10.1016/j.mito.2016.10.004. Epub 2016 Oct 15.

Abstract

Leigh syndrome (LS) is a rare, progressive neurodegenerative mitochondrial disorder of infancy. It is a genetically heterogeneous disease. The mutations in SURF1 gene are the most frequently known cause. Here two cases of LS likely caused by SURF1 gene variants are reported: a 39-year-old male patient with a novel homozygous deletion (c.-11_13del), and a case of a 6-year-old boy with the same deletion and a nonsense mutation (c.868dupT), both in heterozygosity. Blue native PAGE showed absence of assembled complex IV. This is the first report of a variant that may abolish the SURF1 gene initiation codon in two LS patients.

Keywords: COX deficiency; Deletion; Leigh syndrome; Nonsense mutation; SURF1.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • Cytochrome-c Oxidase Deficiency*
  • Genes
  • Humans
  • Leigh Disease / diagnosis*
  • Leigh Disease / pathology*
  • Male
  • Membrane Proteins / deficiency*
  • Mitochondrial Proteins / deficiency*
  • Sequence Deletion

Substances

  • Membrane Proteins
  • Mitochondrial Proteins
  • Surf-1 protein